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A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

Pediatric research - 1 May 2004

Crimi Marco, Papadimitriou Alexandros, Galbiati Sara, Palamidou Phani, Fortunato Francesco, Bordoni Andreina, Papandreou Urania, Papadimitriou Dimitra, Hadjigeorgiou George M, Drogari Eurydiki, Bresolin Nereo, Comi Giacomo Pietro

Abstract excerpt

We describe a new mitochondrial DNA mutation in a male infant who presented clinical and magnetic resonance imaging features of Leigh syndrome and died at the age of 9 mo. The patient's development was reportedly normal in the first months of life. At the age of 5 mo, he presented severe generalized hypotonia, nystagmus, and absent eye contact. Laboratory examination showed increased lactate and pyruvate in both...

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Electron Transport
Electron Transport Complex I
Family Health
Lactic Acid
Leigh Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Magnetic Resonance Imaging

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PMID: 14764913
DOI: 10.1203/01.PDR.0000117844.73436.68

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